Quick Guide To Genetic Testing

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Quick Guide To Genetic Testing

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Aceruloplasminemia testing CP sequencing 2101 81406 4 weeks $1,000 Aceruloplasminemia CP deletion/duplication 2102 81405 4 weeks $1,000 Albinism testing Albinism Sequencing Panel** 1101 81407 8 weeks $2,500 Albinism Deletion/Duplication Panel 1102 81407 6 weeks $2,500 Alstrom syndrome testing ALMS1 sequencing 2103 81406 4 weeks $1,000 Alstrom syndrome ALMS1 deletion/duplication 2104 81405 4 weeks $1,000 Alternating Hemiplegia of Childhood testing ATP1A3 sequencing Alternating hemiplegia of childhood 1103 81406 4 weeks $1,000 Angelman syndrome MS-MLPA (detects methylation and deletions in 15q11-13) 1104 81331 4 weeks $525 UPD 15 testing (requires samples from both parents also) Angelman syndrome 1105 81402 4 weeks $540 Imprinting center deletion analysis 1106 81403 4 weeks $450 UBE3A sequencing 1107 81406 4 weeks $1,000 UBE3A deletion/duplication 1108 81405 4 weeks $1,000 SLC9A6 sequencing 1109 81406 4 weeks $1,000 X-linked Angelman-like syndrome SLC9A6 deletion/duplication 1110 81405 4 weeks $1,000 Angelman Syndrome Tier 2 Panel** 1111 81407 4 weeks $2,500 Rett/Angelman Syndrome Sequencing Panel** 1112 81407 8 weeks $2,500 Rett/Angelman Syndrome Deletion/Duplication Panel 1113 81407 6 weeks $2,500 Aniridia testing PAX6sequencing 2105 81406 4 weeks $1,000 PAX6 deletion/duplication 2106 81405 4 weeks $1,000 Baraitser Winter syndrome testing Baraitser Winter syndrome sequencing panel** 1114 81406 8 weeks $1,500 Baraitser Winter syndrome deletion/duplication panel 1115 81405 4 weeks $1,545 Beckwith-Wiedemann syndrome/image syndrome testing CDKN1C sequencing Beckwith-Wiedemann syndrome 1116 81404 4 weeks $840 Bernard-Soulier syndrome testing GPIbβ sequencing 1117 81403 4 weeks $400 Bernard-Soulier syndrome GPIbβ deletion/duplication 1118 81402 4 weeks $1,000 Brain Malformation testing Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel** 1119 81407 8 weeks $2,800 Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel 1120 81407 6 weeks $2,500 TSEN54 sequencing Cerebellar/Pontocerebellar 1121 81406 4 weeks $1,000 TSEN54 deletion/duplication Hypoplasia (PCH) 1122 81405 4 weeks $1,000 CASK sequencing 1123 81407 4 weeks $1,000 CASK deletion/duplication 1124 81406 4 weeks $1,000 OPHN1 sequencing 1125 81406 4 weeks $1,000 OPHN1 deletion/duplication 1126 81405 4 weeks $1,000 Cerebral Cortical Malformations Sequencing Panel** 1127 81407 8 weeks $3,500 Cerebral Cortical Malformations Cerebral Cortical Malformations Deletion/Duplication Panel 1128 81407 6 weeks $2,500 Holoprosencephaly Sequencing Panel** 1129 81407 8 weeks $2,800 Holoprosencephaly Holoprosencephaly Deletion/Duplication Panel 1130 81407 6 weeks $1,545 L1CAM sequencing 1131 81407 4 weeks $1,000 L1 syndrome L1CAM deletion/duplication 1132 81406 4 weeks $1,000 Comprehensive Hydrocephalus Panel** 1321 81407 6 weeks $3,500 Autosomal Recessive Non-Syndromic Hydrocephalus Sequencing Panel** Hydrocephalus 1133 81407 4 weeks $2,000 Autosomal Recessive Non-Syndromic Hydrocephalus Deletion/Duplication Panel 1134 81407 4 weeks $1,545 Lissencephaly Sequencing Panel** 1322 81407 8 weeks $3,000 Lissencephaly Deletion/Duplication Panel 1323 81407 6 weeks $2,500 Comprehensive Lissencephaly panel** 1135 81407 8 weeks $4,000 Cobblestone Lissencephaly Sequencing Panel** 1136 81407 8 weeks $2,500 Cobblestone Lissencephaly Deletion/Duplication Panel 1137 81407 6 weeks $1,545 DCX (XLIS) sequencing 1138 81405 4 weeks $660 Lissencephaly DCX deletion/duplication 1139 81404 4 weeks $1,000 PAFAH1B1 (LIS1) sequencing 1140 81405 4 weeks $1,000 PAFAH1B1 (LIS1) deletion/duplication 1141 81404 4 weeks $1,000 TUBA1A sequencing 1142 81404 4 weeks $900 TUBA1A deletion/duplication 1143 81403 4 weeks $1,000 ARX sequencing 1144 81404 4 weeks $900 ARX deletion/duplication 1145 81403 4 weeks $1,000 Polymicrogyria Sequencing Panel** 1148 81407 8 weeks $2,500 Polymicrogyria Deletion/Duplication Panel 1149 81407 6 weeks $2,500 GPR56 sequencing 1150 81406 4 weeks $1,000 Polymicrogyria GPR56 deletion/duplication 1151 81405 4 weeks $1,000 OCLN sequencing (exons 2-5) 1152 81405 4 weeks $875 OCLN deletion/duplication (exons 2-5) 1153 81404 4 weeks $1,000

TUBB2B sequencing 1154 81404 4 weeks $1,000 TUBB2Bdeletion/duplication 1155 81403 4 weeks $1,000 Polymicrogyria (cont) TUBB3 sequencing 1156 81404 4 weeks $1,000 TUBB3 deletion/duplication 1157 81403 4 weeks $1,000 CHARGE syndrome testing CHD7 sequencing 1158 81407 4 weeks $1,000 CHARGE syndrome CHD7 deletion/duplication 1159 81406 4 weeks $1,000 CHILD syndrome testing NSDHL sequencing 1160 81405 4 weeks $1,000 CHILD syndrome NSDHL deletion/duplication 1161 81404 4 weeks $1,000 CHIME syndrome testing PIGL sequencing 1162 81405 4 weeks $1,000 CHIME syndrome PIGL deletion/duplication 1163 81404 4 weeks $1,000 Chondrodysplasia punctata testing ARSE sequencing 1164 81405 4 weeks $900 X-linked recessive (CDPX1) ARSE deletion/duplication 1165 81404 4 weeks $1,000 EBP sequencing 1166 81404 4 weeks $540 X-linked dominant (CDPX2) EBP deletion/duplication 1167 81403 4 weeks $1,000 Rhizomelic Chondrodysplasia Punctata Sequencing Panel** 1170 81407 4 weeks $1,500 Ciliopathy testing Bardet-Biedl Syndrome Sequencing Panel** 2107 81407 8 weeks $2,000 Bardet-Biedl syndrome Bardet-Biedl Syndrome Deletion/Duplication Panel 2108 81407 6 weeks $1,545 Joubert/Meckel Gruber Syndrome Sequencing Panel** Joubert syndrome and Meckel 1171 81407 8 weeks $3,000 Gruber syndrome Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel 1172 81407 6 weeks $2,500 Meckel Gruber Syndrome Sequencing Panel** 1173 81407 8 weeks $2,500 Meckel Gruber Syndrome Deletion/Duplication Panel Meckel Gruber syndrome 1174 81407 6 weeks $2,500 Nephronophthisis Sequencing Panel** 1175 81407 8 weeks $2,000 Nephronophthisis Nephronophthisis Deletion/Duplication Panel 1176 81407 6 weeks $1,545 Coffin-Siris syndrome testing Coffin-Siris Syndrome Sequencing Panel** 1178 81407 8 weeks $2,500 Coffin-Siris Syndrome Deletion/Duplication Panel 1179 81407 6 weeks $1,545 Congenital heart defects (isolated) testing NKX2.5 sequencing 1181 81404 4 weeks $430 Isolated congenital heart defects NKX2.5 deletion/duplication 1182 81403 4 weeks $1,000 Congenital Muscle Disease testing Bethlem Myopathy and Ullrich Muscular Dystrophy Sequencing Panel** 3121 81407 8 weeks $2,000 Centronuclear Myopathy Sequencing Panel** 3122 81407 8 weeks $2,000 Congenital Myopathy Sequencing Panel** 3100 81407 8 weeks $2,000 Congenital Myopathy Deletion/Duplication Panel 3101 81407 6 weeks $1,545 Congenital Muscular Dystrophy Sequencing Panel** 3102 81407 8 weeks $2,000 Congenital Muscular Dystrophy Deletion/Duplication Panel 3103 81407 6 weeks $1,545 Congenital Myopathy with Prominent Contractures Sequencing Panel** 3104 81407 8 weeks $2,000 Congenital Myopathy with Prominent Contractures Deletion/Duplication Panel 3105 81407 6 weeks $1,545 Congenital Myopathy with Fiber-Type Disproportion Sequencing Panel** 3126 81407 8 weeks $2,000 Congenital Muscular Dystrophy-Dystroglycanopathy Sequencing Panel** 3119 81407 8 weeks $2,000 Emery-Dreifuss Muscular Dystrophy Sequencing Panel** 3125 81407 8 weeks $2,000 Limb Girdle Muscular Dystrophy Sequencing Panel** 3106 81407 8 weeks $2,000 Limb Girdle Muscular Dystrophy Deletion/Duplication Panel 3107 81407 6 weeks $1,545 Congenital Myasthenic Syndrome Sequencing Panel** 3108 81407 8 weeks $2,000 Congenital Myasthenic Syndrome Deletion/Duplication Panel 3109 81407 6 weeks $1,545 Multiminicore Disease Sequencing Panel** 3123 81407 8 weeks $2,000 Myopathy with Tubular Aggregates Sequencing Panel** 3124 81407 8 weeks $2,000 Neuromuscular Disorders Exome Panel** 6112 81415 6 weeks $4,000 Neuromuscular Disorders Sequencing Panel** 3118 81407 8 weeks $2,000 Nemaline Myopathy Sequencing Panel 3120 81407 8 weeks $2,000 BIN1 sequencing 3110 81406 4 weeks $1,000 BIN1 deletion/duplication Autosomal recessive centronuclear 3111 81405 4 weeks $1,000 RYR1 sequencing myopathy 3112 81408 4 weeks $1,000 RYR1deletion/duplication 3113 81407 4 weeks $1,000 DNM2 sequencing Autosomal dominant centronuclear 3114 81406 4 weeks $1,000 DNM2 deletion/duplication myopathy, CMT 3115 81405 4 weeks $1,000 MTM1 sequencing 3116 81406 4 weeks $1,000 X-linked myotubular myopathy MTM1 deletion/duplication 3117 81405 4 weeks $1,000 Cornelia de Lange syndrome testing Cornelia de Lange Syndrome Panel** 1324 81407 4 weeks $2,500 NIPBL sequencing 1186 81407 4 weeks $1,000 NIPBL deletion/duplication 1187 81406 4 weeks $1,000 SMC1A sequencing 1188 81406 4 weeks $1,000 Cornelia de Lange Syndrome SMC1A deletion/duplication 1189 81405 4 weeks $1,000 SMC3,RAD21, HDAC8 sequencing 1190 81407 4 weeks $1,500 SMC3, RAD21, HDAC8 deletion/duplication 1191 81407 4 weeks $1,545 Cornelia de Lange PLUS Sequencing Panel** 1192 81407 8 weeks $3,500 Cornelia de Lange PLUS Deletion/Duplication Panel** 1270 81407 6 weeks $2,500 Craniofacial testing Craniofacial Sequencing Panel** 1193 81407 8 weeks $3,000 Craniofacial Deletion/Duplication Panel 1194 81407 6 weeks $2,500 Facial Dysostosis Sequencing Panel** 1195 81407 8 weeks $2,500 Facial Dysostosis Deletion/Duplication Panel 1196 81407 6 weeks $1,545

Currarino syndrome MNX1 sequencing MNX1 deletion/duplication analysis Custom mutation analysis (requires approval by UCGS Lab staff) Custom mutation analysis (targeted analysis for known sequence change for first family member) Custom targeted analysis (for known sequence change for additional family members) 2175 81404 4 weeks $1,000 2176 81403 4 weeks $1,000 7101 81403 4 weeks $540 7102 81403 3 weeks $500 Custom deletion/duplication analysis for known familial deletion/duplication by real-time q-pcr 7103 81402 6 weeks $1,000 Custom RNA splicing analysis 9001 81479 12-16 weeks $1,000 Disorders of Sex Development testing Abnormal/Ambiguous Genitalia Sequencing Panel ** 2109 81407 8 weeks $4,000 Hypogonadotropic Hypogonadism Sequencing Panel** 2110 81407 8 weeks $3,500 Hypogonadotropic Hypogonadism Deletion/Duplication Panel 2150 81407 6 weeks $2,500 Kallmann Syndrome Sequencing Panel** 2174 81407 8 weeks $3,000 Hypospadias Sequencing Panel** 2111 81407 8 weeks $2,000 46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel** 2112 81407 8 weeks $2,000 46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel 2177 81407 6 weeks $1,545 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel** 2113 81407 8 weeks $3,000 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel 2178 81407 6 weeks $2,500 Cytogenomic SNP array (postnatal) 8100 81229 4 weeks $1,500 Distal arthrogryposes testing Distal Arthrogryposes Sequencing Panel** 1198 81407 8 weeks $2,500 Distal Arthrogryposes Deletion/Duplication Panel 1199 81407 6 weeks $1,545 Donnai-Barrow syndrome testing LRP2 sequencing 1200 81406 4 weeks $1,000 Donnai-Barrow syndrome LRP2 deletion/duplication 1201 81405 4 weeks $1,000 Dyslipidemia testing Dyslipidemia Sequencing Panel 2186 81407 8 weeks $3,000 Dyslipidemia Deletion/Duplication Panel 2187 81407 6 weeks $2,500 Hypercholesterolemia Sequencing Panel 2188 81407 8 weeks $2,500 Hypercholesterolemia Deletion/Duplication Panel 2189 81407 6 weeks $1,545 Epilepsy testing Early Infantile Epileptic Encephalopathy Panel** 1326 81407 8 weeks $3,000 Epilepsy Exome Panel (includes exome sequencing of proband and both parents)** 6102 81415 6 weeks $5,800 Epilepsy Exome Panel (proband only)** 6103 81415 6 weeks $4,000 ARX sequencing ARX deletion/duplication STXBP1 sequencing STXBP1 deletion/duplication SLC25A22 sequencing SLC25A22 deletion/duplication SPTAN1 sequencing SPTAN1 deletion/duplication PCDH19 sequencing PCDH19 deletion/duplication Cytogenomic SNP array (postnatal) Exome Sequencing 1144 81404 4 weeks $900 1145 81403 4 weeks $1,000 4103 81406 4 weeks $1,000 4104 81405 4 weeks $1,000 4105 81406 4 weeks $1,000 4106 81405 4 weeks $1,000 4107 81408 4 weeks $1,000 4108 81407 4 weeks $1,000 4109 81404 4 weeks $1,000 4110 81403 4 weeks $1,000 8100 81229 4 weeks $1,500 Exome Sequencing (Proband only)** 6103 81415 6 weeks $4,000 Exome Sequencing (Trio)** 6104 81415, 81416 6 weeks $5,800 STAT Exome Sequencing (Proband only)** 6107 81415 Prelim result in 2 weeks $8,000 STAT Exome Sequencing (Trio)** 6108 81415, 81416 Prelim result in 2 weeks $11,600 Exome Select** 6105 81415 6 weeks $3,000 Fanconi-Bickel syndrome testing SLC2A2 sequencing 2114 81406 4 weeks $1,000 Fanconi-Bickel syndrome SLC2A2 deletion/duplication 2115 81405 4 weeks $1,000 Floating Harbor syndrome testing SRCAP sequencing 1202 81407 4 weeks $1,000 Floating Harbor syndrome SRCAP deletion/duplication 1203 81406 4 weeks $1,000 Glucose transporter type 1 deficiency testing SLC2A1 sequencing Glucose transporter type 1 4111 81405 4 weeks $1,000 SLC2A1 deletion/duplication deficiency 4112 81404 4 weeks $1,000 Goldberg-Shprintzen megacolon syndrome testing KIAA1279 sequencing 1204 81405 4 weeks $1,000 Goldberg-Shprintzen megacolon KIAA1279 deletion/duplication 1205 81404 4 weeks $1,000 Hereditary Cancer testing Comprehensive Hereditary Cancer panel** 5144 81406, 81407 6 weeks $4,000 BRCA1 and BRCA2 Mutation Analysis (sequence and deletion/duplication analysis)** 5146 81211, 81213 4 weeks $2,500 BRCA1, BRCA2 and PALB2 Mutation Analysis (sequence and deletion/duplication analysis)** 5147 81211, 81213 4 weeks $2,500 BRCA1, BRCA2 and TP53 Mutation Analysis (sequence and deletion/duplication analysis)** Hereditary Breast and Ovarian Cancer High Risk Panel** Comprehensive Hereditary Breast and Ovarian Cancer Panel** Lynch Syndrome Panel** 5148 81211, 81213 4 weeks $2,500 5149 81211, 81213 6 weeks $3,500 5150 81211, 81213 6 weeks $3,500 5151 81292, 81294, 81295, 81297, 81317, 81319, 81298, 81300 6 weeks $3,500

Hereditary Colorectal Cancer High Risk Panel** Quick Guide To Genetic Testing 5152 81292, 81294, 81295, 81297, 81317, 81319, 81298, 81300, 81201, 81203 6 weeks $3,500

Colorectal Polyposis Panel** 5153 81321, 81323, 81201, 81203 6 weeks $3,500 Comprehensive Hereditary Colorectal Cancer Panel** 5154 81435, 81436 6 weeks $4,000 Hereditary Prostate Cancer Panel** 5155 81407 6 weeks $3,500 Familial BRCA1 mutation 5101 81215 3 weeks $500 Hereditary Breast and Ovarian Familial BRCA2 mutation 5102 81217 3 weeks $500 Cancer 3 Ashkenazi BRCA1 and BRCA2 mutations 5103 81212 3 weeks $500 Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel** 5156 81406, 81407 6 weeks $4,000 Comprehensive Familial Myelodysplastic Syndrome/Acute Leukemia Panel** 5143 81406, 81407 6 weeks $4,000 Tier 1: Familial Myelodysplastic Syndrome / Acute Leukemia Panel** 5104 81406, 81407 6 weeks $3,500 Tier 2: Familial Myelodysplastic Syndrome / Acute Leukemia Panel** 5107 81406, 81407 6 weeks $2,000 Hereditary Leukemia and Breast Cancer Panel** 5142 81406, 81407 6 weeks $4,000 Tier 1: Hereditary Lymphoma Panel** 5108 81406, 81407 6 weeks $3,300 Tier 2: Hereditary Lymphoma Panel** 5109 81406, 81407 6 weeks $2,000 Diamond-Blackfan Anemia Sequencing Panel** 5112 81407 8 weeks $2,000 Diamond-Blackfan Anemia Deletion/Duplication panel 5113 81406 6 weeks $1,545 Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel** 5114 81406, 81407 6 weeks $3,500 Telomere Biology Disorder/Dyskeratosis Congenita Sequencing Panel** 5115 81407 6 weeks $2,500 Dyskeratosis Congenita Deletion/Duplication Panel 5116 81406 6 weeks $1,545 Fanconi Anemia Sequencing Panel** 5117 81407 8 weeks $2,000 Fanconi Anemia Deletion/Duplication Panel 5118 81406 6 weeks $1,545 Hereditary Melanoma Sequencing panel** 5119 81445 6 weeks $2,000 Hereditary Melanoma Deletion/Duplication panel 5120 81407 6 weeks $1,545 Hereditary Gastric Cancer Panel** 5121 81445 6 weeks $3,500 Hereditary Pheochromocytoma and Paraganglioma Panel** 5122 81445, 81406 6 weeks $3,000 Hereditary Thyroid Cancer Panel** 5145 81406, 81407 4 weeks $3,500 Comprehensive Bone Marrow Failure Panel** 5133 81406, 81407 6 weeks $3,000 Inherited Bone Marrow Failure Sequencing Panel** Inherited Bone Marrow Failure 5134 81407 6 weeks $2,000 Disorderes Inherited Bone Marrow Failure Deletion/Duplication Panel 5135 81406 6 weeks $1,545 SCG5/GREM1 targeted duplication testing (founder Hereditary mixed polyposis mutation) syndrome 5136 81402 3 weeks $500 Severe Congenital Neutropenia Sequencing Panel ** 5137 81407 8 weeks $2,000 Severe Congenital Neutropenia Deletion/Duplication Panel 5138 81406 6 weeks $1,545 SMARCA4 sequencing Rhabdoid Tumor Predisposition 5139 81407 4 weeks $1,000 SMARCA4 deletion/duplication Syndrome 5140 81406 4 weeks $1,000 Hereditary Hemorrhagic Telangictasia (HHT) Hereditary Hemorrhagic Telangectasia (HHT) Sequencing Panel** 1314 81407 8 weeks $1,500 Hereditary Hemorrhagic Telangectasia (HHT) Deletion/Duplication Panel** 1271 81407 6 weeks $1,545 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum SLC12A6 sequencing Hereditary Motor and Sensory 1208 81406 4 weeks $1,000 SLC12A6 deletion/duplication Neuropathy with ACC 1209 81405 4 weeks $1,000 Hydroxyglutaric Aciduria (D2 and L2) D-2-Hydroxyglutaric Aciduria Sequencing Panel** 1197 81406 4 weeks $1,500 D-2-Hydroxyglutaric Aciduria Deletion/Duplication Panel** 1329 81407 6 weeks $1,545 L2HGDH sequencing 1217 81405 4 weeks $1,000 L2HGDH Deletion/Duplication 1330 81404 4 weeks $1,000 SLC25A1 sequencing 1180 81405 4 weeks $1,000 SLC25A1 Deletion/Duplication 1331 81404 4 weeks $1,000 D-2 and L2-Hydroxyglutaric Aciduria Sequencing Panel** 1325 81407 8 weeks $1,500 D-2 and L2-Hydroxyglutaric Aciduria Deletion/Duplication Panel** 1332 81407 6 weeks $1,545 Hyperinsulinism, Congenital testing Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism 2116 81407 7 days $3,000 Congenital Hyperinsulinism Sequencing Panel Familial hyperinsulinism 2117 81407 4 weeks $1,400 Comprehensive Congenital Hyperinsulinism Panel 2118 81407 4 weeks $3,000 Hypoinsulinemic Hypoglycemia with Hemihypertrophy testing AKT2 sequencing Hypoinsulinemic Hypoglycemia with 2119 81406 4 weeks $1,000 AKT2 deletion/duplication Hemihypertrophy 2120 81405 4 weeks $1,000 Intellectual Disability (ID) testing Autosomal Recessive Non-Specific ID Sequencing Panel** 1210 81407 8 weeks $2,000 X-Linked Non-Specific ID Sequencing Panel** 1211 81470 8 weeks $2,000 Non-Specific ID Sequencing Panel** 1212 81407, 81470 8 weeks $3,500 Intellectual Disability Exome Panel (trio)** 6106 81415, 81416 6 weeks $5,500 Cytogenomic SNP array (postnatal) 8100 81229 4 weeks $1,500 IPEX syndrome testing FOXP3 sequencing 2121 81406 4 weeks $1,000 IPEX syndrome FOXP3 deletion/duplication 2122 81405 4 weeks $1,000 Kabuki syndrome testing KMT2D (MLL2) sequencing 1213 81408 4 weeks $1,000 KMT2D (MLL2) deletion/duplication 1214 81407 4 weeks $1,000 KDM6A sequencing Kabuki syndrome 1215 81407 4 weeks $1,000 KDM6A deletion/duplication 1216 81406 4 weeks $1,000 Comprehensive Kabuki syndrome panel** 1327 81407 8 weeks $2,500 Lipodystrophy testing Comprehensive Lipodystrophy Sequencing Panel** 2123 81407 8 weeks $3,000 Comprehensive Lipodystrophy Deletion/Duplication Panel 2124 81407 6 weeks $2,500 Congenital Generalized Lipodystrophy Sequencing panel** 2125 81407 8 weeks $2,000 Congenital Generalized Lipodystrophy Deletion/Duplication panel 2126 81405 6 weeks $1,545

Partial Lipodystrophy Sequencing Panel** 2127 81407 8 weeks $3,000 Partial Lipodystrophy Deletion/Duplication Panel 2128 81407 6 weeks $1,545 Laminopathy testing LMNA sequencing (Lamin A/C) 1218 81406 4 weeks $1,000 Laminopathies LMNA deletion/duplication 1219 81405 4 weeks $1,000 Macrocephaly testing Macrocephaly Sequencing Panel** 1220 81407 8 weeks $3,000 Macrocephaly Deletion/Duplication Panel 1221 81407 6 weeks $2,500 NSD1 sequencing 1222 81406 4 weeks $1,000 NSD1 deletion/duplication Sotos syndrome 1223 81405 4 weeks $1,000 NSD1 mutation analysis (sequencing + deletion/duplication) 1317 81405, 81406 4 weeks $1,700 EZH2 sequencing 1224 81406 4 weeks $1,000 EZH2 deletion/duplication Weaver syndrome 1225 81405 4 weeks $1,000 EZH2 mutation analysis (sequencing + deletion/duplication) 1318 81405, 81406 4 weeks $1,700 NFIX sequencing Sotos-like syndrome 1226 81405 4 weeks $1,000 MCT8 testing: (NOTE: 3-10cc of blood in a red top tube AND 3-10cc of blood in a purple top EDTA tube) Thyroid testing only 84436, 84481, 2129 Allan-Herndon-Dudley 84443, 84482 2 weeks $350 SLC16A2 (MCT8) sequencing (performed after abnormal syndrome/mct8-related thyroid thyroid testing) hormone cell transporter deficiency 2130 81405 4 weeks $1,000 SLC16A2 (MCT8) deletion/duplication 2131 81404 4 weeks $1,000 Menkes disease testing ATP7A sequencing 1227 81406 4 weeks $1,000 Menkes disease ATP7A deletion/duplication 1228 81405 4 weeks $1,000 Microcephalic Osteodysplastic Primordial Dwarfism Seckel Syndrome Sequencing Panel** 1229 81407 8 weeks $2,000 Seckel Syndrome Deletion/Duplication Panel 1230 81407 6 weeks $1,545 Meier-Gorlin Syndrome Sequencing Panel** 1231 81407 8 weeks $2,000 Meier-Gorlin Syndrome Deletion/Duplication Panel 1232 81407 6 weeks $1,545 Comprehensive Primordial Dwarfism Sequencing Panel** 1233 81407 8 weeks $2,000 Comprehensive Primordial Dwarfism Deletion/Duplication Panel 1234 81407 6 weeks $1,545 3-M Syndrome Sequencing Panel** 1328 81407 8 weeks $1,500 Microcephaly testing Microcephaly Sequencing Panel** 1237 81407 8 weeks $4,000 Microcephaly Deletion/Duplication Panel** 1269 81407 6 weeks $2,500 Comprehensive Autosomal Recessive Primary Microcephaly Panel** ASPM sequencing ASPM deletion/duplication Autosomal Recessive Primary Microcephaly 1315 81407 8 weeks $3,000 1240 81407 4 weeks $1,000 1241 81406 4 weeks $1,000 IER3IP1 sequencing Microcephaly, Epilepsy and Diabetes 2132 81404 4 weeks $1,000 IER3IP1 deletion/duplication Syndrome 2133 81403 4 weeks $1,000 NDE1 sequencing 1244 81405 4 weeks $1,000 NDE1 deletion/duplication 1245 81404 4 weeks $1,000 PNKP sequencing 1246 81406 4 weeks $1,000 PNKP deletion/duplication 1247 81405 4 weeks $1,000 STAMBP sequencing Microcephaly-Capillary Malformation 1248 81405 4 weeks $1,000 STAMBP deletion/duplication Syndrome 1249 81404 4 weeks $1,000 WDR62sequencing 1250 81407 4 weeks $1,000 WDR62 deletion/duplication 1251 81406 4 weeks $1,000 Mitchell-Riley syndrome testing RFX6 sequencing 2134 81406 4 weeks $1,000 Mitchell-Riley syndrome RFX6 deletion/duplication 2135 81405 4 weeks $1,000 Mowat Wilson syndrome testing ZEB2 sequencing 1252 81405 4 weeks $1,000 Mowat-Wilson syndrome ZEB2 deletion/duplication 1253 81404 4 weeks $1,000 Multiple Congenital Anomaly testing Cytogenomic SNP array (postnatal) 8100 81229 4 weeks $1,500 Movement Disorder testing Ataxia Exome Panel** 6101 81415 6 weeks $4,000 Ataxia Repeat Expansion Panel** 4101 81401 2-4 weeks $1,250 Comprehensive Ataxia Panel** 4102 81401, 81415 6 weeks $5,000 Dystonia Exome Panel** 6109 81415 6 weeks $3,500 Hereditary Spastic Paraplegia Exome Panel** 6110 81415 6 weeks $3,000 Neonatal Diabetes Mellitus, Maturity-Onset Diabetes of the Young and Monogenic Obesity testing Comprehensive Neonatal Diabetes Mutation Analysis 2136 81407 4 weeks $3,000 6q24 Methylation-Specific MLPA Transient neonatal diabetes 2137 81402 4 weeks $600 Neonatal Diabetes Mellitus (NDM) Sequencing Panel 2138 81407 4 weeks $2,500 Neonatal Diabetes Mellitus (NDM) Deletion/Duplication Panel 2139 81407 6 weeks $1,545 Neonatal Diabetes/MODY Sequencing Panel 2140 81407 8 weeks $3,000 MODY Panel 2141 81407 6 weeks $3,000 GCK sequencing 2142 81405 4 weeks $850 MODY type 2 GCKdeletion/duplication 2143 81404 4 weeks $1,000 GLIS3 sequencing NDM with Congenital 2144 81405 4 weeks $1,000 GLIS3 deletion/duplication Hypothyroidism 2145 81404 4 weeks $1,000 KCNJ11 sequencing 2146 81403 4 weeks $400 Neonatal diabetes KCNJ11 deletion/duplication 2147 81402 4 weeks $1,000 NEUROG3 sequencing NDM with Severe Malabsorptive 2148 81403 4 weeks $1,000 NEUROG3 deletion/duplication Diarrhea 2149 81403 4 weeks $1,000

Bardet-Biedl Syndrome Sequencing Panel** 2107 81407 8 weeks $2,000 Bardet-Biedl Syndrome Deletion/Duplication Panel 2108 81407 6 weeks $1,545 Non-Syndromic Monogenic Obesity Sequencing Panel** 2169 81407 8 weeks $2,500 Non-Syndromic Monogenic Obesity Deletion/Duplication Monogenic Obesity Panel** 2179 81407 6 weeks $1,545 Monogenic Obesity Sequencing Panel** 2151 81407 8 weeks $3,000 Monogenic Obesity Deletion/Duplication Panel** 2180 81407 6 weeks $2,500

Neurodegeneration with brain iron accumulation (NBIA) testing NBIA Sequencing Panel** 1254 81407 8 weeks $2,500 NBIA Deletion/Duplication Panel 1255 81407 6 weeks $1,545 PANK2 sequencing 1258 81405 4 weeks $900 PKAN/Hallervorden-Spatz syndrome PANK2 deletion/duplication 1259 81404 4 weeks $1,000 PLA2G6 sequencing 1260 81406 4 weeks $1,000 Infantile neuroaxonal dystrophy PLA2G6 deletion/duplication 1261 81405 4 weeks $1,000 Neuronal Ceroid- Lipofuscinoses testing Neuronal Ceroid-Lipofuscinoses Panel** 4113 81407 8 weeks $2,000 Nicolaides-Baraitser syndrome testing SMARCA2 sequencing 1262 81407 4 weeks $1,000 Nicolaides-Baraitser syndrome SMARCA2 deletion/duplication 1263 81406 4 weeks $1,000 Noonan syndrome testing Noonan Syndrome Sequencing panel** 1312 81407 8 weeks $2,000 Noonan Syndrome Deletion/Duplication panel 1313 81407 6 weeks $1,545 Oculodentodigital dysplasia testing GJA1 sequencing 1264 81404 4 weeks $540 Oral-facial-digital syndrome testing OFD1 sequencing 1265 81406 4 weeks $1,000 Oral-facial-digital syndrome OFD1 deletion/duplication 1266 81405 4 weeks $1,000 Pancreatic Agenesis PDX1sequencing 2152 81404 4 weeks $1,000 Pancreatic Agenesis PDX1 deletion/duplication 2153 81403 4 weeks $1,000 GATA6 sequencing Pancreatic Agenesis and Congenital 2154 81405 4 weeks $1,000 GATA6 deletion/duplication Heart Defects 2155 81404 4 weeks $1,000 PTF1Asequencing 2156 81404 4 weeks $1,000 Pancreatic and Cerebellar Agenesis PTF1A deletion/duplication 2157 81403 4 weeks $1,000 Pigmented hypertrichotic dermatosis with insulin-dependent diabetes mellitus testing SLC29A3 sequencing 2158 81405 4 weeks $1,000 SLC29A3 deletion/duplication 2159 81404 4 weeks $1,000 Pitt-Hopkins syndrome testing TCF4 sequencing 1267 81406 4 weeks $1,000 Pitt-Hopkins syndrome TCF4 deletion/duplication 1268 81405 4 weeks $1,000 Prader-Willi syndrome testing Methylation Specific MLPA 1104 81331 4 weeks $525 UPD15 (requires samples from both parents also) 1105 81402 4 weeks $540 Imprinting center deletion analysis 1106 81403 4 weeks $450 MAGEL2 sequencing 1272 81403 4 weeks $1,000 Premature Ovarian Failure testing Premature Ovarian Failure Sequencing Panel** 2160 81407 8 weeks $2,000 Premature Ovarian Failure Deletion/Duplication Panel** 2181 81407 6 weeks $1,545 Renal Cystic Disorders testing Renal Cystic Disorders Sequencing Panel** 1311 81407 8 weeks $2,000 Rett/Atypical Rett syndrome testing Rett/Atypical Rett Syndrome Panel** 1273 81407 4 weeks $2,500 Rett/Angelman Syndrome Sequencing Panel** 1112 81407 8 weeks $2,500 Rett/Angelman Syndrome Deletion/Duplication Panel 1113 81407 6 weeks $2,500 MECP2 sequencing 1274 81302 4 weeks $900 Rett syndrome MECP2 deletion/duplication 1275 81304 4 weeks $1,000 CDKL5 sequencing 1276 81406 4 weeks $1,000 CDKL5 deletion/duplication 1277 81405 4 weeks $1,000 FOXG1 sequencing 1278 81404 4 weeks $550 Rett syndrome, congenital variant FOXG1 deletion/duplication 1279 81402 4 weeks $1,000 MEF2C sequencing 1280 81405 4 weeks $1,000 MEF2C deletion/duplication 1281 81404 4 weeks $1,000 Rickets testing Rickets Sequencing Panel** 2173 81407 4 weeks $2,500 Rickets Deletion/Duplication Panel** 2182 81407 6 weeks $1,545 Roberts syndrome testing ESCO2 sequencing 1282 81405 4 weeks $1,000 ESCO2 deletion/duplication 1283 81404 4 weeks $1,000 Robinow syndrome testing ROR2 sequencing Autosomal Recessive Robinow 1284 81405 4 weeks $1,000 ROR2 deletion/duplication syndrome, brachydactyly type B1 1285 81404 4 weeks $1,000 WNT5A sequencing Autosomal Dominant Robinow 1286 81404 4 weeks $1,000 WNT5A deletion/duplication syndrome 1287 81403 4 weeks $1,000 Comprehensive Robinow Syndrome panel** 1319 81407 8 weeks $2,500 Rubinstein-Taybi syndrome testing CREBBP sequencing 1288 81407 4 weeks $1,000 CREBBP deletion/duplication 1289 81406 4 weeks $1,000 EP300 sequencing 1290 81407 4 weeks $1,000 EP300 deletion/duplication 1291 81406 4 weeks $1,000 Comprehensive Rubenstein-Taybi Syndrome panel** 1320 81407 8 weeks $2,500 Schinzel-Giedion syndrome testing SETBP1 sequencing 1292 81404 4 weeks $1,000 SETBP1 deletion/duplication 1293 81403 4 weeks $1,000

SHORT syndrome testing PIK3R1sequencing 1294 81406 4 weeks $1,000 Thrombocytopenia testing Comprehensive Thrombocytopenia Panel** 5106 81407 6 weeks $4,000 Thrombocytopenia Sequencing panel** 5141 81407 6 weeks $3,000 Thrombocytopenia Deletion/Duplication Panel** 5157 81407 6 weeks $2,500 Temple-Baraitser syndrome testing KCNH1sequencing 1146 81406 4 weeks $900 Thiamine Responsive Megaloblastic Anemia syndrome testing SLC19A2 sequencing 2161 81405 4 weeks $1,000 SLC19A2 deletion/duplication 2162 81404 4 weeks $1,000 Thyroid Disorders testing Congenital Hypothyroidism Sequencing panel** 2170 81407 4 weeks $2,500 Congenital Hypothyroidism Deletion/Duplication panel** 2183 81407 6 weeks $2,500 Hyperparathyroidism Sequencing panel** 2171 81407 4 weeks $2,500 Hyperparathyroidism Deletion/Duplication panel** 2184 81407 6 weeks $1,545 Hypoparathyroidism Sequencing panel** 2172 81407 4 weeks $2,500 Hypoparathyroidism Deletion/Duplication panel** 2185 81407 6 weeks $2,500 Type A Insulin Resistant Diabetes with Acanthosis Nigricans testing INSR sequencing Type A Insulin Resistant Diabetes 2163 81406 4 weeks $1,000 INSR deletion/duplication with Acanthosis Nigricans 2164 81405 4 weeks $1,000 UGT1A1 testing UGT1A1 genotyping for Gilbert syndrome 1295 81350 2 weeks $390 UGT1A1 genotyping for irinotecan dosing 1296 81350 1 week $390 UGT1A1 sequencing 1297 81404 4 weeks $875 Crigler-Najjar syndrome UGT1A1 deletion/duplication 1298 81403 4 weeks $1,000 UPD testing: (NOTE: 3-10cc of blood in an EDTA/purple top tube from patient AND BOTH parents) UPD6 testing Transient neonatal diabetes 1299 81402 4 weeks $540 UPD7 testing Russell-Silver syndrome 1300 81402 4 weeks $540 UPD14 testing UPD14 1301 81402 4 weeks $540 UPD15 testing Angelman and Prader-Willi syndromes 1105 81402 4 weeks $540 Warburg Micro syndrome testing Warburg Micro Syndrome Sequencing Panel** 1303 81407 8 weeks $1,500 Warburg Micro Syndrome Deletion/Duplication Panel 1304 81407 6 weeks $1,545 Warburg Micro Syndrome Comprehensive Panel** 1316 81407 8 weeks $2,500 Wiedemann-Steiner syndrome testing KMT2A (MLL) sequencing 1305 81407 4 weeks $1,000 Wiedemann-Steiner syndrome KMT2A (MLL) deletion/duplication 1306 81406 4 weeks $1,000 Wilson Disease testing ATP7B sequencing 1307 81406 4 weeks $1,000 Wilson disease ATP7B deletion/duplication 1308 81405 4 weeks $1,000 Wolcott-Rallison syndrome EIF2AK3 sequencing 2165 81406 4 weeks $1,000 Wolcott-Rallison syndrome EIF2AK3 deletion/duplication 2166 81405 4 weeks $1,000 Wolfram syndrome testing Wolfram Syndrome Sequencing panel** 2167 81406 4 weeks $1,500 Wolfram Syndrome Deletion/Duplication panel 2168 81405 4 weeks $1,545 Woodhouse-Sakati syndrome testing DCAF17 sequencing 1309 81406 4 weeks $1,000 DCAF17 deletion/duplication 1310 81405 4 weeks $1,000 Targeted Testing Testing for a known mutation in additional family member by sequence analysis 7102 81403 3 weeks $500 Testing for a known mutation in additional family member by deletion/duplication analysis (MLPA or array-cgh) gene specific gene specific 4 weeks $1,000 Prenatal Testing Prenatal testing for known mutation by sequence analysis 7104 81403 1 week $1,800 Prenatal testing for known deletion/duplication by MLPA 7105 81402 2 weeks $1,800 Prenatal testing for known deletion/duplication by real-time q-pcr 7106 81402 3 weeks $1,800 MISCELLANEOUS FEES Cell culture service (skin fibroblasts) 1147 88233 2-3 weeks $350 STAT fee for known mutations, deletion/duplication testing, MS-MLPA or UPD*** n/a 99060 MAY CUT TAT IN HALF $200 STAT fee for full gene sequencing (single gene, requires prior approval)*** n/a 99060 MAY CUT TAT IN HALF $500 STAT fee for Next-Generation Sequencing panel (requires prior approval)*** n/a 99060 MAY CUT TAT IN HALF $1,000 Technical lab charge for initial processing of failed sample n/a 99199 n/a $150 ROUTINE TESTS: 3-10cc of blood in a purple top (EDTA) tube PRENATAL: 20cc amniotic fluid, 25mgs chorionic villi, or 2 T25 flasks cultured cells, along with 3-10cc of mother s blood in an EDTA/purple top tube *Prices listed are applicable for institutional/patient self pay billing options only. Please contact us for prices for direct insurance billing. **Please note that we do not bill insurance directly for these specific tests. We apologize for the inconvenience. ***Please note that STAT testing is not available for all tests. Please contact the laboratory for more information.

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